MyVariant.info:
GRCh38
chr11:g.5226605dupT
GRCh38
chr11:g.5226604_5226605insT
GRCh37
chr11:g.5247835dupT
GRCh37
chr11:g.5247834_5247835insT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226606dup , CM000673.2:g.5226606dup | GRCh38 |
| NC_000011.9:g.5247836dup , CM000673.1:g.5247836dup | GRCh37 |
| NC_000011.8:g.5204412dup | NCBI36 |
| NG_000007.3:g.71011dup | |
| NG_059281.1:g.5467dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.287dup | ENSP00000494175.1:p.Leu97AlafsTer6 | |
| ENST00000335295.4:c.287dup MANE Select | ENSP00000333994.3:p.Leu97AlafsTer6 | |
| ENST00000475226.1:n.219dup | ||
| ENST00000485743.1:n.338dup | ||
| ENST00000633227.1:c.*103dup | ENSP00000488004.1:n.*103dup | |
| NM_000518.4:c.287dup | NP_000509.1:p.Leu97AlafsTer6 | |
| NM_000518.5:c.287dup MANE Select | NP_000509.1:p.Leu97AlafsTer6 |